Dr. Chaney Aa Metabolism

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N-acetylglutamate deficiency

Back 1

remember that acetyl CoA and glutamate combine via this enzyme and act as a positive regulation on carbamoyl phosphate syntase (first step of urea cycle). deficiency= hyperammonemia

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type 1 hyperammonemia

Back 2

deficiency in carbamoyle phosphate synthase

Front 3

type 2 hyperammonemia

Back 3

ornithine transcarbamoylase deficiency. X-linked

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arginosuccinate synthase deficiency

Back 4

results in increased citrullinemia

Front 5

areginosuccinate lyase deficiency

Back 5

results in increase arginosuccinate in blood urine CSF

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hyperphenylalanemia type 1

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loss of phenylalanine hydrolase enzyme that converts phe to tyrosine, results in phenylketonuria (PKU). results in neurological and developmental defects. treated with restricted diet

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hyperphenylalanemia type 2 and 3

Back 7

loss of dihydrobiopterin reductase. remember that dihydrobiopterin is the oxidizer of phenylalanine to tyrosine. the enzyme listed above reduces the dihydrobiopterin and allows it to be recycled so the reaction can keep going forward. leads to PKU

Front 8

hyperphenylalanemia type 4 and 5

Back 8

loss of dihydrobiopterin synthase. cant even produce the oxidizing agent of the phe to tyrosine reaction. will result in PKU but many more additional problems because DHB is used as an oxidizer in more than just this reaction.

Front 9

PKU

Back 9

due to the loss of ability to convert phenylalanine into tyrosine tyrosine becomes an essential amino acid. Also phenylalanine if high in the diet is converted to toxic ketones (phenyllactate and phenylacetate)= neurologic and developmental disorder

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albinism

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caused by deficiency in tyrosinase (tyrosine hydroxylase enzyme). this is the same enzyme that converts tyrosine to L-Dopa but albinos don't seem to have the neurological difficulties of parkinson's/scitsophrinics etc

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tyrosinemia 1

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deficiency in fumarylacetoacetate hydrolase. this is the enzyme that converts fumarylacetoacetate into fumarate and acetoacetate. the high levels of the fumarylacetoacetate are toxic to the liver=death in 1 year

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tyrosinemia 2

Back 12

deficiency in tyrosine transaminase/aminotransferase. this enzyme is the first step of the degredation of tyrosine.

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alcaptonuria

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deficiency in homogentisate oxidase. this enzyme converts homogentisate to maleylacetoacetate in the tyrosine metabolism pathway. results in homogentisatenuria= brown pee. treatment is restricted protein, associated with arthritis

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parkinson's

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reduction in production of L-DOPA- a product of tyrosine metabolism in the brain. treated with L-DOPA

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homocystinuria

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deficiency in cystathione synthase. this enzyme converts homocysteine to cystathionine. results in increased levels of homocysteine and methionine leading to mental retardation, dislocation of the lense. vit B12 treatment recommened

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cystathionuria

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cystathionase deficiency. crystals of cystathionine result in the kidney blocking reabsorbtion of certain aa in PT of the kidney

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cystinosis

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lysosomal storage disease

Front 18

maple syrup urine disease

Back 18

deficiency in branched chain aa (isoleucine, leucine, valine) ketoacid dehydrogenase. remember that in BCAA metabolism there are two common enzymes. The first is the BCAA transaminase that deaminates the AA forming keto acids. Then there is the BCAA ketoacid dehydrogenase that produces the end products. this disease results in neurologic problems and mortality. treatment is by diet